Making genomes make sense

The Internet was the domain of the U.S. Department of Defense and a handful of scientists before enterprising college students and technology geeks figured out how make money off it and launched the “dot.com” era.

Similarly, in only a decade technology has transformed the sequencing of a whole human genome from a scientific milestone costing about $3 billion to a relatively routine affair costing several thousand dollars.

But using this wealth of genomic data to improve healthcare and human health has proven to be a tougher nut to crack.

Whole genome sequencing—examining in detail all of an individual’s DNA—has the potential to help researchers and clinicians diagnose genetically caused diseases, pinpoint people at high risk for diseases before they show symptoms, and guide new disease treatments, according to Jim Evans, MD, PhD, and Bryson Professor of Genetics and Medicine at the University of North Carolina School of Medicine.

“The problem today isn’t the sequencing itself,” said Evans. “The real challenge is taking this massive amount of data and making sense of it.”